FAST Search & Rescue was officially launched by the Foundation for Angelman Syndrome Therapeutics (FAST) in early 2022, as a collaborative initiative to bring the global community together and identify every individual in the world living with Angelman syndrome.
This program is being supported by over a dozen clinicians and researchers including geneticists, neurologists, data management experts, Angelman syndrome clinicians, and global Angelman syndrome organizations and associations. The steering committee of this initiative has recruited additional support from professionals that handle newborn screening, companies that focus on genetic testing, industry and regulatory professionals and patient advocacy representatives from around the world that ensure our data is collected in the right way, being de-identified and most useful.
We’re born with two sets of chromosomes – one set inherited from our mother and the other set from our father.
In most people, the UBE3A gene inherited from the mother is active while the copy inherited from the father is silenced by neurons in the brain (known as imprinting). In people with AS, though, the maternal gene malfunctions and limited-to-no UBE3A is expressed in the neurons in the brain.
When there’s a malfunction in the UBE3A gene, the body doesn’t get the right instructions for making the UBE3A protein – the protein that enables us to walk, talk and do many other things. The lack of any functional UBE3A protein triggers symptoms of AS.
AS shows no obvious symptoms at birth. But, after a few months, parents may notice that their child isn’t meeting common developmental milestones.
There is no single, definitive test for Angelman syndrome (AS) because it can be caused by different types of disruptions to the UBE3A gene.
A child may receive a normal result from their first test but that does not necessarily mean they don’t have AS. If the symptoms of AS are present, further types of testing is required to rule out, or confirm, AS.
If your child is being investigated for AS, it is important to know exactly which tests they’ve had and whether AS has been definitively excluded.
Sometimes, though, people with AS are misdiagnosed. They’re told they have cerebral palsy or autism spectrum disorder.
The Global Angelman Syndrome Registry has medical-grade security. All information received is encrypted and stored on a secure server.
All Registry data disseminated to the public domain will be aggregated and de-identified, as patient names, dates of birth and other information which could potentially lead to the identification of participants will be removed from the analysis and replaced with a unique identification number. Names and other potentially identifiable information will be linked to these unique identification numbers in a separate file stored on a secure computer terminal, on a separate database to any health data at the university. This process ensures that all data is potentially “re-identifiable” should the need occur.
Only de-identified data will be made accessible to researchers who are granted permission through the Global Angelman Registry Governance Board.
*The population prevalence of AS is estimated at 1:12,000-1:24,000 [Mertz et al 2013].
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow [Godler et al 2022].